Understanding ALS

Although ALS has been receiving a lot of attention thanks to the Ice Bucket Challenge, few are truly informed about the effects of this devastating motor neuron disease.

Amyotrophic Lateral Sclerosis, or ALS as it is commonly known, has been receiving plenty of attention in the media recently thanks to a viral awareness campaign. The Ice Bucket Challenge tasks participants with dumping a bucket of cold water over their heads or instead donating to the ALS Association. The campaign has contributed to a more than 1000% increase in donations. Participants include everyone from Justin Bieber to Bill Gates. Although the challenge has garnered widespread interest, many still know very little about the neurodegenerative disease.

ALS: Behind the Hype

ALS typically strikes people between ages 40-60, attacking nerve cells and pathways in the brain and spinal cord. Early symptoms include difficulty breathing, muscle weakness, twitching, muscle cramps and difficulty speaking. As the disease progresses, symptoms worsen and patients often end up completely paralyzed. The most famous sufferer, New York Yankees player Lou Gehrig, was diagnosed with the disease in the spring of 1939 and died in 1941 at age 37. The average life expectancy following diagnosis is two to five years, but many people can live beyond that timeframe. Famed scientist Stephen Hawking, 72, was diagnosed with the disease in 1963.

Stephen Hawking has survived longer than most ALS patients, although his condition has significantly affected his health. Hawking is almost entirely paralyzed and must communicate through a speech-generating device.

The cause of ALS is unknown, but some researchers have suggested a hereditary and environmental link. Cases of multiple American football players and soccer players have caused speculation over an injury related link, but scientists determined that it was plausible for those instances to be chance occurrences.

According to the ALS Association, more than 5,000 people are diagnosed with the disease each year. It is believed that ALS affects 30,000 people in the U.S and is the most common motor neuron disease, although it is classified as a rare disease. Few treatments have been identified despite hopeful leads. Riluzole is the only medication that has been determined to improve survival, but only to an extent of several months. It does not reverse damage already done to motor neurons. Other treatments are collaboratively used to address the many associated illnesses that arise as a result of ALS.

The treatment consists of a small-molecule drug compound which prevents abnormal cellular processes caused by a mutation in the C9ORF72 gene. Previously, it was determined that this mutation produces an unusual repetitive genetic sequence that causes the buildup of abnormal RNA in brain cells and spinal cord. The compound, which was tested in cell culture models of c9FTD/ALS, bound to and blocked RNA’s ability to interact with other key proteins, thereby preventing the formation of toxic RNA clumps.

Biomarkers are essential to understanding and treating diseases. Scientists are hopeful that the recent identification of a biomarker associated with ALS will advance treatment of the condition. “These landmark findings offer the possibility of both improved diagnosis and treatment for up to 40 percent of all patients with familial (inherited) ALS and up to 25 percent of patients with familial frontotemporal dementia,” according to Dr. Kevin Boylan, medical director of the Mayo Jacksonville ALS Center.

Researchers hope to conduct follow up studies with the drug that may lead to enhanced efficacy in treating ALS and FTD. “Development of a readily accessible biomarker for the c9FTD/ALS mutation may aid not only in diagnosis of these disorders and allow for tracking disease course in patients, but it could provide a more direct way to evaluate the response to experimental treatments,” said Dr. Kevin Boylan, a co-author of the study. And with over $41 million raised so far through the Ice Bucket Challenge, ALS researchers are hopeful that the funds will enable unprecedented progress.

Legendary Bass Player Mike Porcaro, best known for his work with the Grammy Award-winning band TOTO, retired from touring in 2007 after a growing numbness in his fingers made it increasingly difficult for him to perform. Subsequently diagnosed with amyotrophic lateral sclerosis (ALS; aka Lou Gehrig’s disease) in 2010, Porcaro has been supported in his fight against the illness by his former band members (including sole surviving brother Steve Porcaro) who revived the band for yearly summer tours financing ALS research. As of September 2012, it was reported that Porcaro was stricken to a wheelchair but “was doing as well as could be expected considering the disease’s progress”.